*** Could the contributor who created this page indicate (here or on the talk/discussion page) what evidence they feel associates this SNP, rs147408540, to the Ala282Val variant in the IVD gene? SNPedia already contains another SNP - rs28940889 - which is reported to be the IVD Ala282Val SNP, and, this newly entered SNP, rs147408540, maps to chromosome 4 according to dbSNP, instead of to ch 15, which is (correctly mentioned below) as located on ch 15.
This SNP is associated with the IVD gene (isovaleryl-CoA dehydrogenase) missense substitution mutation variant named p.A311V (variation p.Ala282Val). The p.Ala282Val variant is associated with Isovaleric acidemia. The IVD gene has the cytogenetic location of 15q14-q15; the molecular location is on chromosome 15 (the long (q) arm between positions 14 and 15), base pairs 40697685 to 40713511.
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